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GTR Home > Conditions/Phenotypes > Fibrochondrogenesis 2

Fibrochondrogenesis 2

Summary

Fibrochondrogenesis is a severe skeletal dysplasia characterized by a flat midface, short long bones, short ribs with broad metaphyses, and vertebral bodies that show distinctive hypoplastic posterior ends and rounded anterior ends, giving the vertebral bodies a pinched appearance on lateral radiographic views. The chest is small, causing perinatal respiratory problems which usually, but not always, result in lethality. Affected individuals who survive the neonatal period have high myopia, mild to moderate hearing loss, and severe skeletal dysplasia (summary by Tompson et al., 2012). For a discussion of genetic heterogeneity of fibrochondrogenesis, see FBCG1 (228520). [from OMIM]

Available tests

73 tests are in the database for this condition.

Clinical tests (73 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: DFNA13, DFNB53, FBCG2, HKE5, OSMEDA, OSMEDB, PARP, STL3, COL11A2
    Summary: collagen type XI alpha 2 chain

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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